Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21155262C>G , CM000676.2:g.21155262C>G | GRCh38 |
| NC_000014.8:g.21623421C>G , CM000676.1:g.21623421C>G | GRCh37 |
| NC_000014.7:g.20693261C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001004731.3:c.611G>C MANE Select | NP_001004731.2:p.Gly204Ala |
| ENST00000304418.5:c.611G>C MANE Select | ENSP00000302057.4:p.Gly204Ala |
| NM_001004731.1:c.764G>C | NP_001004731.1:p.Gly255Ala |
| NM_001004731.2:c.611G>C | NP_001004731.2:p.Gly204Ala |
| ENST00000304418.4:c.764G>C | ENSP00000302057.3:p.Gly255Ala |
| ENST00000641039.1:c.611G>C | ENSP00000493247.1:p.Gly204Ala |
| ENST00000641697.1:c.611G>C | ENSP00000493238.1:p.Gly204Ala |
| ENST00000641822.1:c.764G>C | ENSP00000493431.1:p.Gly255Ala |